Duchenne muscular dystrophy

3-minute read

Living with a debilitating genetic condition like Duchenne muscular dystrophy is challenging, because it causes a gradual loss of muscle function that affects everyday movements and activities. Health professionals and muscular dystrophy support organisations work to help those with Duchenne muscular dystrophy, and their families and carers, maintain quality of life as best possible.

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy, or DMD, is a particular type of muscular dystrophy (or wasting) caused by a mutation in the DMD gene.

The DMD gene helps produce a protein called dystrophin, which is important for muscle strength, support and repair. People with Duchenne muscular dystrophy don’t produce the normal form of dystrophin, which means their muscles are more easily damaged and don’t work properly.

The genetic mutation of the DMD gene is either inherited from parents or caused by a genetic change in the child.

Types of muscular dystrophy

There are many types of muscular dystrophy, with Duchenne muscular dystrophy being the most common in children.

Becker muscular dystrophy is very similar to Duchenne muscular dystrophy. It has the same underlying cause but is usually less severe, presenting with slightly different symptoms.

Duchenne muscular dystrophy signs

The first thing parents usually notice is that their child isn’t reaching their milestones. They might also notice that their child falls over often, is clumsy and walks on their toes.